Objective To explore the association between vitamin D receptor (VDR) gene rs731236 polymorphism and the risk of autism spectrum disorder (ASD), in order to provide scientific evidence for early diagnosis and intervention.

Methods Case-control studies on the association between VDR gene rs731236 polymorphism and the risk of ASD were retrieved from China National Knowledge Internet, China Science and Technology Journal Database, WanFang Data Knowledge Service Platform, PubMed, Embase and Cochrane Library databases. The date was from the beginning of database set up till now. Meta-analysis, sensitivity and publication bias were performed using Stata 17.0 software.

Results A total of 8 English papers were involved, including 2 418 subjects(1 252 cases and 1 166 controls). The allele model (C vs. T, OR = 1.322, 95% CI: 1.159 − 1.508), homozygous model (CC vs. TT, OR = 1.795, 95% CI: 1.328 − 2.425), dominant model (CT + CC vs. TT, OR = 1.339, 95% CI: 1.126 − 1.593) and recessive model (CC vs. TT + CT, OR = 1.648, 95% CI: 1.242 − 2.187) of VDR gene rs731236 was associated with risk of ASD. The results showed stability and no significant publication bias was found.

Conclusion VDR gene rs731236 polymorphism is associated with the risk of ASD. Allelic C, genotype CC, or genotype CT+CC can increase the risk of ASD, but larger sample size and more high-quality studies are still needed to validate the results.